Submissions for variant NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) (rs45487992)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125686	SCV000169150	benign	not specified	2014-01-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000233893	SCV000285393	benign	Tuberous sclerosis 2	2018-01-04	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000125686	SCV000305218	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000042551	SCV000395652	likely benign	Tuberous sclerosis syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562049	SCV000664685	likely benign	Hereditary cancer-predisposing syndrome	2016-01-12	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000125686	SCV000857581	likely benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042551	SCV000066345	not provided	Tuberous sclerosis syndrome		no assertion provided	curation